Sengers syndrome

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Prevalence (%) of clinical parameters based on data from 2 references describing 7 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Lactate accumulation circulatory 100 % 15168109 2011-10-18
Cardiomyopathy circulatory 100 % 16736096 2011-10-11
Cataract nervous 100 % 16736096 2011-10-11
Exercise intolerance multi 100 % 15168109 2011-10-11
Cataract nervous 100 % 15168109 2011-10-11
Hypotonia skeletal 100 % 16736096 2011-10-10
Myopathy skeletal 100 % 15168109 2011-10-11
Cardiomyopathy circulatory 100 % 15168109 2011-10-11
3-methylglutaconic aciduria multi 50 % 15168109 2011-10-10
Hypotonia skeletal 50 % 15168109 2011-10-10



List of references:


Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
Eva Morava, Rob Sengers, Henk Ter Laak, Lambert Van Den Heuvel, Antoon Janssen, Frans Trijbels, Hans Cruysberg, Carolien Boelen, Jan Smeitink,



European journal of pediatrics - Aug 2004



Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Gabriella Di Rosa, Federica Deodato, Ference J Loupatty, Cristiano Rizzo, Rosalba Carrozzo, Filippo M Santorelli, Sara Boenzi, Adele D'Amico, Giulia Tozzi, Enrico Bertini, Andrea Maiorana, Ronald J A Wanders, Carlo Dionisi-Vici,



Journal of inherited metabolic disease - Aug 2006